Analysis of a family affected with familial male-limited precocious puberty due to a Ala568Val mutation in LHCGR gene

Chinese Journal of Medical Genetics

Volumn 29, Issue 6, 2012, Pages 631-634

  Chen, Rui Min ^a   Zhang, Ying ^a   Yang, Xiao Hong ^a   Lin, Xiang Quan ^a  

^a FUJIAN MEDICAL UNIVERSITY   (China)

Author keywords

Activating mutation; Expressivity; Familial male limited precocious puberty; LHCGR gene; Sequence analysis

Indexed keywords

AROMATASE INHIBITOR; GONADORELIN; GONADOTROPIN; LUTEINIZING HORMONE RECEPTOR; TESTOSTERONE;

ARTICLE; BLOOD ANALYSIS; BODY HEIGHT; BONE AGE; CASE REPORT; CHILD; CLINICAL FEATURE; DNA EXTRACTION; EXON; FAMILIAL MALE LIMITED PRECOCIOUS PUBERTY; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; SEQUENCE ANALYSIS; SEX DIFFERENCE;

ADULT; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHILD, PRESCHOOL; CODON; EXONS; HUMANS; MALE; MODELS, MOLECULAR; MUTATION; PROTEIN CONFORMATION; PUBERTY, PRECOCIOUS; RECEPTORS, LH;

EID: 84872135136     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2012.06.002     Document Type: Article

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